Product Details

SNP ID

rs199663847

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:105659205 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCTGCGCGGTCGTGGTTTAGGG[G/T]GTCTGGCTGGTGCCTGTGAACCATC

Phenotype

MIM: 604491

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CBLB PubMed Links

Gene Details

Gene

CBLB

Gene Name

Cbl proto-oncogene B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321786.1	2600	Missense Mutation	CAC,CCC	H933P	NP_001308715.1
NM_001321788.1	2600	Missense Mutation	CAC,CCC	H905P	NP_001308717.1
NM_001321789.1	2600	Missense Mutation	CAC,CCC	H884P	NP_001308718.1
NM_001321790.1	2600	Missense Mutation	CAC,CCC	H883P	NP_001308719.1
NM_001321791.1	2600	Missense Mutation	CAC,CCC	H861P	NP_001308720.1
NM_001321793.1	2600	Missense Mutation	CAC,CCC	H861P	NP_001308722.1
NM_001321794.1	2600	Missense Mutation	CAC,CCC	H856P	NP_001308723.1
NM_001321795.1	2600	Missense Mutation	CAC,CCC	H856P	NP_001308724.1
NM_001321796.1	2600	Missense Mutation	CAC,CCC	H856P	NP_001308725.1
NM_001321797.1	2600	Missense Mutation	CAC,CCC	H812P	NP_001308726.1
NM_001321798.1	2600	Missense Mutation	CAC,CCC	H812P	NP_001308727.1
NM_001321799.1	2600	Missense Mutation	CAC,CCC	H812P	NP_001308728.1
NM_001321806.1	2600	Missense Mutation	CAC,CCC	H645P	NP_001308735.1
NM_001321807.1	2600	Missense Mutation	CAC,CCC	H645P	NP_001308736.1
NM_001321808.1	2600	Missense Mutation	CAC,CCC	H601P	NP_001308737.1
NM_001321811.1	2600	Missense Mutation	CAC,CCC	H596P	NP_001308740.1
NM_001321813.1	2600	Missense Mutation	CAC,CCC	H596P	NP_001308742.1
NM_001321816.1	2600	Missense Mutation	CAC,CCC	H552P	NP_001308745.1
NM_001321820.1	2600	Missense Mutation	CAC,CCC	H465P	NP_001308749.1
NM_001321822.1	2600	Missense Mutation	CAC,CCC	H462P	NP_001308751.1
NM_170662.4	2600	Missense Mutation	CAC,CCC	H905P	NP_733762.2
XM_011513257.1	2600	Missense Mutation	CAC,CCC	H905P	XP_011511559.1
XM_011513259.2	2600	Intron			XP_011511561.2
XM_017007395.1	2600	Missense Mutation	CAC,CCC	H927P	XP_016862884.1
XM_017007396.1	2600	Missense Mutation	CAC,CCC	H889P	XP_016862885.1
XM_017007397.1	2600	Missense Mutation	CAC,CCC	H884P	XP_016862886.1
XM_017007398.1	2600	Missense Mutation	CAC,CCC	H878P	XP_016862887.1
XM_017007399.1	2600	Missense Mutation	CAC,CCC	H856P	XP_016862888.1
XM_017007400.1	2600	Missense Mutation	CAC,CCC	H840P	XP_016862889.1

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